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Article

An SCN9A channelopathy causes congenital inability to experience pain.

Nature - 14 Dec 2006

Cox James J, Reimann Frank, Nicholas Adeline K, Thornton Gemma, Roberts Emma, Springell Kelly, Karbani Gulshan, Jafri Hussain, Mannan Jovaria, Raashid Yasmin, Al-Gazali Lihadh, Hamamy Henan, Valente Enza Maria, Gorman Shaun, Williams Richard, McHale Duncan P, Wood John N, Gribble Fiona M, Woods C Geoffrey

Abstract excerpt

The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous families from northern Pakistan, we mapped the condition as an autosomal-recessive trait to chromosome 2q24.3. This region contains the gene SCN9A, encoding the alpha-subunit of the voltage-gated sodium channel, Na(v)1.7, which is strongly expressed in nociceptive neurons. Sequence analysis of...

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Identifiers

PMID: 17167479
DOI: 10.1038/nature05413
PMCID: PMC7212082

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Related research

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Research trail→

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An SCN9A channelopathy causes congenital inability to experience pain.PMID 17167479Read ↗

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutationsSemantic proximity Read ↗

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disordersSemantic proximity Read ↗

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.Semantic proximity Read ↗

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.Semantic proximity Read ↗

A stop codon mutation in SCN9A causes lack of pain sensation.Semantic proximity Read ↗

A novel mutation in SCN9A in a child with congenital insensitivity to pain.Semantic proximity Read ↗

Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.Semantic proximity Read ↗

Sodium channelopathies and pain.Semantic proximity Read ↗

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels.Semantic proximity Read ↗

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7.Semantic proximity Read ↗

Painful and painless channelopathies.Semantic proximity Read ↗

Painless Na <sub>v</sub> 1.7 mutations reveal function-critical residues in the outer vestibule and N-terminusSemantic proximity Read ↗

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